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Xeroderma pigmentosum disease (NGS panel for 8 genes)
DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
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Specimen Requirements
| Descriptive |
Volume / Concentration 1 |
Container |
Transport temperature |
Sample viability (days) 2 |
|---|---|---|---|---|
| DNA | ≥ 100 µL [50 ng/µL] | Eppendorf Safe-lock | Room temp. | n/a |
| Peripheral blood | ≥ 3 mL | EDTA | Room temp. | 5 |
1
When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2
Maximum shipping time to ensure sample quality
Turnaround Time (Days)
- 60
Specialties
- Rare diseases, Neurology / Neuropediatrics, Oncology
CGC Reference
- 4830
Associated Tests
OncoRisk Expanded (NGS panel for 89 genes, including CNV analysis)
Hereditary ichthyosis (WES based NGS panel for 57 genes, including CNV analysis)
Trichothiodystrophy (NGS panel of 5 genes)
Xeroderma pigmentosum disease (sequence analysis of XPA gene)
Xeroderma pigmentosum disease (sequence analysis of XPC gene)